HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112830547_112830553del , CM000664.2:g.112830547_112830553del | GRCh38 |
NC_000002.11:g.113588124_113588130del , CM000664.1:g.113588124_113588130del | GRCh37 |
NC_000002.10:g.113304595_113304601del | NCBI36 |
NG_008851.1:g.11227_11233del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263341.7:c.618_624del MANE Select | ENSP00000263341.2:p.Tyr206Ter | |
ENST00000263341.6:c.618_624del | ENSP00000263341.2:p.Tyr206Ter | |
ENST00000491056.5:n.1425_1431del | ||
NM_000576.2:c.618_624del | NP_000567.1:p.Tyr206Ter | |
XM_006712496.1:c.384_390del | XP_006712559.1:p.Tyr128Ter | |
XM_017003988.2:c.525_531del | XP_016859477.1:p.Tyr175Ter | |
NM_000576.3:c.618_624del MANE Select | NP_000567.1:p.Tyr206Ter |